ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573100440
Gene: RP1L1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_849188.4:p.Ser681Phe
CA370292474
NM_178857.5:c.2042C>T